Incidental Mutation 'R6343:Ttll5'
ID |
514017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll5
|
Ensembl Gene |
ENSMUSG00000012609 |
Gene Name |
tubulin tyrosine ligase-like family, member 5 |
Synonyms |
1700048H13Rik, D630041K24Rik, STAMP, 2310009M18Rik, 4930556H18Rik |
MMRRC Submission |
044497-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.716)
|
Stock # |
R6343 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
85871417-86100534 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86003473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 1103
(H1103R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105853
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040179]
[ENSMUST00000040273]
[ENSMUST00000110224]
[ENSMUST00000155448]
[ENSMUST00000176695]
[ENSMUST00000177114]
|
AlphaFold |
Q8CHB8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040179
AA Change: H1117R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000048809 Gene: ENSMUSG00000012609 AA Change: H1117R
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
110 |
407 |
1.9e-94 |
PFAM |
low complexity region
|
556 |
575 |
N/A |
INTRINSIC |
low complexity region
|
595 |
621 |
N/A |
INTRINSIC |
low complexity region
|
747 |
761 |
N/A |
INTRINSIC |
low complexity region
|
781 |
793 |
N/A |
INTRINSIC |
low complexity region
|
835 |
847 |
N/A |
INTRINSIC |
low complexity region
|
1167 |
1181 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000040273
AA Change: H1117R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000039939 Gene: ENSMUSG00000012609 AA Change: H1117R
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
110 |
407 |
1e-94 |
PFAM |
low complexity region
|
556 |
575 |
N/A |
INTRINSIC |
low complexity region
|
595 |
621 |
N/A |
INTRINSIC |
low complexity region
|
747 |
761 |
N/A |
INTRINSIC |
low complexity region
|
781 |
793 |
N/A |
INTRINSIC |
low complexity region
|
835 |
847 |
N/A |
INTRINSIC |
low complexity region
|
1167 |
1181 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110224
AA Change: H1103R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105853 Gene: ENSMUSG00000012609 AA Change: H1103R
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
110 |
407 |
1e-94 |
PFAM |
low complexity region
|
543 |
562 |
N/A |
INTRINSIC |
low complexity region
|
582 |
608 |
N/A |
INTRINSIC |
low complexity region
|
734 |
748 |
N/A |
INTRINSIC |
low complexity region
|
768 |
780 |
N/A |
INTRINSIC |
low complexity region
|
822 |
834 |
N/A |
INTRINSIC |
low complexity region
|
1153 |
1167 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155448
|
SMART Domains |
Protein: ENSMUSP00000134971 Gene: ENSMUSG00000012609
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
110 |
407 |
6.4e-95 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000175844
AA Change: H85R
|
SMART Domains |
Protein: ENSMUSP00000134934 Gene: ENSMUSG00000012609 AA Change: H85R
Domain | Start | End | E-Value | Type |
low complexity region
|
136 |
150 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176695
|
SMART Domains |
Protein: ENSMUSP00000135852 Gene: ENSMUSG00000012609
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
110 |
407 |
2.1e-95 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000176937
AA Change: H284R
|
Predicted Effect |
unknown
Transcript: ENSMUST00000177168
AA Change: H552R
|
SMART Domains |
Protein: ENSMUSP00000134874 Gene: ENSMUSG00000012609 AA Change: H552R
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
low complexity region
|
31 |
57 |
N/A |
INTRINSIC |
low complexity region
|
183 |
197 |
N/A |
INTRINSIC |
low complexity region
|
217 |
229 |
N/A |
INTRINSIC |
low complexity region
|
271 |
283 |
N/A |
INTRINSIC |
low complexity region
|
603 |
617 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000177525
AA Change: H246R
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177114
|
SMART Domains |
Protein: ENSMUSP00000135395 Gene: ENSMUSG00000012609
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
110 |
407 |
2.1e-95 |
PFAM |
|
Meta Mutation Damage Score |
0.0603 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (51/51) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010] PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit male infertility associated with abnormal sperm morphology and reduced tubulin polyglutamylation in the spermatozoa. [provided by MGI curators]
|
Allele List at MGI |
All alleles(7) : Targeted, other(3) Gene trapped(4) |
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
A |
T |
11: 110,205,378 (GRCm39) |
L301Q |
probably damaging |
Het |
Adgrl4 |
T |
C |
3: 151,223,443 (GRCm39) |
L632P |
probably damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,527,562 (GRCm39) |
I539N |
probably benign |
Het |
Camta1 |
T |
A |
4: 151,164,306 (GRCm39) |
H314L |
probably damaging |
Het |
Car2 |
T |
C |
3: 14,953,025 (GRCm39) |
S56P |
probably damaging |
Het |
Chrm5 |
G |
A |
2: 112,309,793 (GRCm39) |
A441V |
probably damaging |
Het |
Ckap5 |
T |
A |
2: 91,426,819 (GRCm39) |
N1380K |
possibly damaging |
Het |
Cspg4 |
T |
C |
9: 56,799,976 (GRCm39) |
V1580A |
probably benign |
Het |
Dcc |
A |
G |
18: 71,469,106 (GRCm39) |
L1099P |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Epha5 |
A |
T |
5: 84,254,606 (GRCm39) |
H644Q |
probably damaging |
Het |
Eya3 |
T |
C |
4: 132,400,221 (GRCm39) |
I80T |
probably damaging |
Het |
Fdft1 |
A |
T |
14: 63,388,721 (GRCm39) |
Y304N |
probably damaging |
Het |
Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
Gpatch2l |
T |
A |
12: 86,307,379 (GRCm39) |
Y252* |
probably null |
Het |
Hivep1 |
G |
T |
13: 42,313,147 (GRCm39) |
G1796* |
probably null |
Het |
Irf8 |
T |
C |
8: 121,480,446 (GRCm39) |
V228A |
probably damaging |
Het |
Islr |
A |
C |
9: 58,064,379 (GRCm39) |
V376G |
probably damaging |
Het |
Kdm5a |
T |
C |
6: 120,359,894 (GRCm39) |
V230A |
probably benign |
Het |
Lpgat1 |
A |
G |
1: 191,508,684 (GRCm39) |
|
probably null |
Het |
Lrp8 |
T |
C |
4: 107,726,353 (GRCm39) |
|
probably null |
Het |
Lyzl4 |
A |
C |
9: 121,407,150 (GRCm39) |
S127A |
possibly damaging |
Het |
Map4k1 |
T |
C |
7: 28,699,715 (GRCm39) |
V606A |
possibly damaging |
Het |
Mau2 |
T |
A |
8: 70,484,173 (GRCm39) |
K138N |
probably damaging |
Het |
Meikin |
T |
C |
11: 54,261,592 (GRCm39) |
L33P |
probably damaging |
Het |
Mrpl28 |
T |
C |
17: 26,345,252 (GRCm39) |
V224A |
probably benign |
Het |
Ncdn |
T |
C |
4: 126,640,964 (GRCm39) |
D512G |
possibly damaging |
Het |
Nlrp2 |
T |
A |
7: 5,303,925 (GRCm39) |
Q200L |
possibly damaging |
Het |
Nup98 |
T |
C |
7: 101,843,957 (GRCm39) |
N89S |
possibly damaging |
Het |
Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
Or14a258 |
T |
A |
7: 86,035,059 (GRCm39) |
R270* |
probably null |
Het |
Or52p2 |
A |
G |
7: 102,237,753 (GRCm39) |
C66R |
probably damaging |
Het |
Or5b12 |
G |
T |
19: 12,896,946 (GRCm39) |
H242Q |
probably damaging |
Het |
Or6c201 |
A |
T |
10: 128,969,535 (GRCm39) |
L34* |
probably null |
Het |
Padi3 |
C |
T |
4: 140,530,819 (GRCm39) |
V68I |
possibly damaging |
Het |
Pign |
A |
T |
1: 105,512,820 (GRCm39) |
M621K |
probably benign |
Het |
Pigv |
C |
T |
4: 133,392,547 (GRCm39) |
V208M |
probably damaging |
Het |
Ripk4 |
A |
G |
16: 97,564,726 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
A |
G |
7: 97,310,124 (GRCm39) |
K285E |
probably benign |
Het |
Serpina3k |
G |
C |
12: 104,311,562 (GRCm39) |
G380A |
probably benign |
Het |
Sorbs1 |
A |
G |
19: 40,365,426 (GRCm39) |
|
probably null |
Het |
Srrd |
G |
C |
5: 112,487,866 (GRCm39) |
A104G |
probably benign |
Het |
Tbp |
T |
A |
17: 15,721,351 (GRCm39) |
|
probably null |
Het |
Tecrl |
G |
A |
5: 83,442,447 (GRCm39) |
H209Y |
probably damaging |
Het |
Tmprss11c |
A |
G |
5: 86,404,204 (GRCm39) |
L157P |
probably damaging |
Het |
Tmprss13 |
A |
T |
9: 45,254,498 (GRCm39) |
T422S |
possibly damaging |
Het |
Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
Vldlr |
A |
G |
19: 27,223,049 (GRCm39) |
Y699C |
probably damaging |
Het |
Vmn1r22 |
T |
G |
6: 57,877,563 (GRCm39) |
N138T |
possibly damaging |
Het |
|
Other mutations in Ttll5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00844:Ttll5
|
APN |
12 |
85,890,600 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00932:Ttll5
|
APN |
12 |
85,976,681 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00964:Ttll5
|
APN |
12 |
85,896,057 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL00978:Ttll5
|
APN |
12 |
85,980,256 (GRCm39) |
nonsense |
probably null |
|
IGL00990:Ttll5
|
APN |
12 |
85,923,363 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01726:Ttll5
|
APN |
12 |
85,965,708 (GRCm39) |
missense |
probably benign |
0.30 |
IGL01797:Ttll5
|
APN |
12 |
86,003,371 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL02008:Ttll5
|
APN |
12 |
85,980,385 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02210:Ttll5
|
APN |
12 |
85,959,319 (GRCm39) |
intron |
probably benign |
|
IGL02979:Ttll5
|
APN |
12 |
85,873,356 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03079:Ttll5
|
APN |
12 |
85,923,332 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03149:Ttll5
|
APN |
12 |
85,965,758 (GRCm39) |
missense |
probably damaging |
0.98 |
G4846:Ttll5
|
UTSW |
12 |
86,071,018 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4812001:Ttll5
|
UTSW |
12 |
85,973,635 (GRCm39) |
missense |
probably benign |
0.12 |
R0045:Ttll5
|
UTSW |
12 |
85,926,133 (GRCm39) |
splice site |
probably benign |
|
R0153:Ttll5
|
UTSW |
12 |
85,878,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R0282:Ttll5
|
UTSW |
12 |
86,042,827 (GRCm39) |
missense |
probably benign |
0.12 |
R0318:Ttll5
|
UTSW |
12 |
85,923,368 (GRCm39) |
critical splice donor site |
probably null |
|
R0465:Ttll5
|
UTSW |
12 |
85,980,100 (GRCm39) |
missense |
probably benign |
0.42 |
R0540:Ttll5
|
UTSW |
12 |
85,980,450 (GRCm39) |
critical splice donor site |
probably null |
|
R1086:Ttll5
|
UTSW |
12 |
85,937,853 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1467:Ttll5
|
UTSW |
12 |
85,965,736 (GRCm39) |
splice site |
probably null |
|
R1470:Ttll5
|
UTSW |
12 |
85,926,168 (GRCm39) |
missense |
possibly damaging |
0.59 |
R1470:Ttll5
|
UTSW |
12 |
85,926,168 (GRCm39) |
missense |
possibly damaging |
0.59 |
R1505:Ttll5
|
UTSW |
12 |
85,926,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R1524:Ttll5
|
UTSW |
12 |
85,911,342 (GRCm39) |
nonsense |
probably null |
|
R1540:Ttll5
|
UTSW |
12 |
85,938,982 (GRCm39) |
nonsense |
probably null |
|
R1598:Ttll5
|
UTSW |
12 |
85,910,372 (GRCm39) |
missense |
probably damaging |
0.98 |
R1649:Ttll5
|
UTSW |
12 |
85,969,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R1774:Ttll5
|
UTSW |
12 |
85,980,176 (GRCm39) |
missense |
probably benign |
0.09 |
R2340:Ttll5
|
UTSW |
12 |
85,938,922 (GRCm39) |
missense |
probably benign |
0.02 |
R4049:Ttll5
|
UTSW |
12 |
86,059,573 (GRCm39) |
missense |
probably benign |
0.01 |
R4094:Ttll5
|
UTSW |
12 |
86,003,376 (GRCm39) |
nonsense |
probably null |
|
R4095:Ttll5
|
UTSW |
12 |
86,003,376 (GRCm39) |
nonsense |
probably null |
|
R4908:Ttll5
|
UTSW |
12 |
85,965,948 (GRCm39) |
missense |
probably benign |
0.31 |
R5012:Ttll5
|
UTSW |
12 |
85,973,618 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5137:Ttll5
|
UTSW |
12 |
85,969,819 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5416:Ttll5
|
UTSW |
12 |
86,059,602 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5773:Ttll5
|
UTSW |
12 |
85,980,329 (GRCm39) |
frame shift |
probably null |
|
R5774:Ttll5
|
UTSW |
12 |
85,980,329 (GRCm39) |
frame shift |
probably null |
|
R6039:Ttll5
|
UTSW |
12 |
85,878,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R6039:Ttll5
|
UTSW |
12 |
85,878,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R6173:Ttll5
|
UTSW |
12 |
85,980,151 (GRCm39) |
missense |
probably damaging |
0.99 |
R6449:Ttll5
|
UTSW |
12 |
86,071,050 (GRCm39) |
missense |
probably benign |
0.00 |
R6750:Ttll5
|
UTSW |
12 |
86,003,384 (GRCm39) |
missense |
probably damaging |
0.98 |
R6802:Ttll5
|
UTSW |
12 |
85,926,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R6825:Ttll5
|
UTSW |
12 |
85,930,102 (GRCm39) |
splice site |
probably null |
|
R6955:Ttll5
|
UTSW |
12 |
85,911,353 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7098:Ttll5
|
UTSW |
12 |
85,964,447 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7154:Ttll5
|
UTSW |
12 |
85,972,538 (GRCm39) |
missense |
probably damaging |
0.98 |
R7215:Ttll5
|
UTSW |
12 |
85,980,170 (GRCm39) |
missense |
probably benign |
0.02 |
R7339:Ttll5
|
UTSW |
12 |
85,904,238 (GRCm39) |
critical splice donor site |
probably null |
|
R7520:Ttll5
|
UTSW |
12 |
85,946,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R7728:Ttll5
|
UTSW |
12 |
86,003,406 (GRCm39) |
missense |
probably benign |
0.02 |
R7894:Ttll5
|
UTSW |
12 |
85,935,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R8119:Ttll5
|
UTSW |
12 |
86,067,322 (GRCm39) |
missense |
probably damaging |
0.98 |
R8129:Ttll5
|
UTSW |
12 |
85,937,858 (GRCm39) |
critical splice donor site |
probably null |
|
R8200:Ttll5
|
UTSW |
12 |
85,926,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R8357:Ttll5
|
UTSW |
12 |
85,923,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R8413:Ttll5
|
UTSW |
12 |
85,965,895 (GRCm39) |
missense |
probably benign |
0.00 |
R8457:Ttll5
|
UTSW |
12 |
85,923,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R9086:Ttll5
|
UTSW |
12 |
86,071,107 (GRCm39) |
missense |
probably benign |
|
R9086:Ttll5
|
UTSW |
12 |
85,964,516 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9265:Ttll5
|
UTSW |
12 |
85,937,795 (GRCm39) |
nonsense |
probably null |
|
R9293:Ttll5
|
UTSW |
12 |
85,937,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R9302:Ttll5
|
UTSW |
12 |
85,873,338 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9621:Ttll5
|
UTSW |
12 |
85,938,896 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCATCGCAGACTGTGATTG -3'
(R):5'- GCTCAGTGCTAGAATCTGTGGAC -3'
Sequencing Primer
(F):5'- AGACTGTGATTGCTCCCACATG -3'
(R):5'- TGCTAGAATCTGTGGACAGGCAG -3'
|
Posted On |
2018-04-27 |